منابع مشابه
Pathophysiology of Late Onset Alzheimer Disease
As the world population has aged, the number of people affected by Alzheimer Disease is rapidly increasing in the world. It is important for clinicians to recognize early signs and symptoms of dementia and to note potentially modifiable risk factors and early disease markers. Accumulation of A┚ peptides may be the key event in pathogenesis of AD. The exact mechanism by which A┚ peptide depositi...
متن کاملGenetic studies on chromosome 12 in late-onset Alzheimer disease.
CONTEXT The only genetic locus universally accepted to be important as a risk factor for late-onset Alzheimer disease (AD) is the apolipoprotein E (APOE) locus on chromosome 19. However, this locus does not account for all the risk in late-onset disease, and a recent report has suggested a second locus on chromosome 12p11-12. OBJECTIVE To look for evidence of linkage on chromosome 12 and to t...
متن کاملSORL1 mutations in early- and late-onset Alzheimer disease
OBJECTIVE To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on cli...
متن کاملLate-onset Alzheimer disease risk variants mark brain regulatory loci.
OBJECTIVE To investigate the top late-onset Alzheimer disease (LOAD) risk loci detected or confirmed by the International Genomics of Alzheimer's Project for association with brain gene expression levels to identify variants that influence Alzheimer disease (AD) risk through gene expression regulation. METHODS Expression levels from the cerebellum (CER) and temporal cortex (TCX) were obtained...
متن کاملCotton wool plaques in non-familial late-onset Alzheimer disease.
Cotton wool plaques (CWP) are large, ball-like plaques lacking dense amyloid cores that displace adjacent structures. They were first described in a Finnish kindred with early-onset Alzheimer disease (AD) with spastic paraparesis due to a presenilin-1 delta9 mutation. We describe a case of sporadic late-onset AD with numerous neocortical CWP as well as severe amyloid angiopathy and marked leuko...
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ژورنال
عنوان ژورنال: CONTINUUM: Lifelong Learning in Neurology
سال: 2019
ISSN: 1080-2371
DOI: 10.1212/con.0000000000000700